Huntington’s disease gene

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This discovery was the result of Wexler’s work with the Venezuela Collaborative Huntington’s Disease Project, which studied families in two Venezuelan villages with an unusually high incidence of the disease. Wexler’s work was inspired by her mother, a geneticist who had been diagnosed with Huntington’s disease (despite the fact that it was believed to only affect men). Analysis of more than 4,000 blood samples led Wexler and colleagues to identify the HTT gene and its location on chromosome 4. It was the first disease-associated gene to be mapped to a chromosome using recombinant DNA techniques. In 1993, Wexler received the Albert Lasker Public Service award for her work.